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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
16.8K
Critical Region, Critical Values and Significance Level01:16

Critical Region, Critical Values and Significance Level

11.7K
The critical region, critical value, and significance level are interdependent concepts crucial in hypothesis testing.
In hypothesis testing, a sample statistic is converted to a test statistic using z, t, or chi-square distribution. A critical region is an area under the curve in  probability distributions demarcated by the critical value. When the test statistic falls in this region, it suggests that the null hypothesis must be rejected. As this region contains all those values of the...
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相关实验视频

Updated: May 17, 2025

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
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区域扫描 (RegionScan):一个全面的R包,用于区域级全基因组关联测试,并集成和可视化多变体和单变体假设测试.

Myriam Brossard1, Delnaz Roshandel2, Kexin Luo1

  • 1Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5T 3L9, Canada.

Bioinformatics advances
|March 31, 2025
PubMed
概括

区域扫描为多个和单个变体提供可扩展的全基因组关联测试. 该工具为各种应用提供了对区域级遗传架构的宝贵见解.

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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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相关实验视频

Last Updated: May 17, 2025

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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科学领域:

  • 遗传学 是一个遗传学.
  • 生物信息学是一种生物信息学.
  • 计算生物学 计算生物学

背景情况:

  • 全基因组关联研究 (GWAS) 对于识别与疾病相关的遗传变异至关重要.
  • 目前的方法往往集中在单个变体上,可能缺少复杂的区域效应.
  • 需要可扩展和高效的工具来进行全面的区域级遗传分析.

研究的目的:

  • 引入RegionScan,这是一个软件工具,用于在区域一级进行可扩展的全基因组关联测试.
  • 实施和比较多个最先进的区域级关联测试.
  • 为遗传架构分析提供可视化和解释工具.

主要方法:

  • 区域扫描实现了三个类别的区域级测试:多变量回归,差异组件得分测试和minP测试.
  • 该软件支持多样性变体,不平衡的表型,并且与VCF文件兼容.
  • 杆链接不平衡 (LD) 结构和并行处理用于计算效率.

主要成果:

  • 区域扫描能够在基因组区域内对单个和多个变异进行可扩展的测试.
  • 提供详细的输出,包括变量LD bin分配和效果估计.
  • 便于对区域级遗传关联结果进行比较,可视化和解释.

结论:

  • 区域扫描为区域级GWAS提供了一个全面的解决方案,增强对遗传架构的理解.
  • 该工具的可扩展性和多样化的测试能力支持广泛的遗传研究应用.
  • 在GitHub上免费使用RegionScan,促进可访问性和进一步开发.